Mucopolysaccharidosis, Type Iiid (MPS3D)

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Disease Ontology 12 DOID:0111402 OMIM 56 252940 MeSH 43 D009084 ICD10 via Orphanet 33 E76.2 UMLS via Orphanet 72 C0086650

Orphanet 58 ORPHA79272 MedGen 41 C0086650 SNOMED-CT via HPO 68 103276001 128613002 15188001 16294009 195708003 203598005 228156007 246545002 247578003 249699000 252157006 253207002 254069004 255314001 258211005 267060006 275295002 288939007 313307000 343087000 385522000 399939002 40159009 40739000 44548000 48610005 53827007 53888004 55033002 57048009 62315008 62718007 65327002 708670007 7890003 8011004 80515008 84445001 84757009 88565003 90145001 91138005 91175000 95427009 95515009 95828007 more UMLS 71 C0086650

NIH Rare Diseases : ⁵² Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia , aggressive behavior, hyperactivity, seizures , deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N -acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidosis iii and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase). Affiliated tissues include brain, spinal cord and eye, and related phenotypes are low-set ears and short neck

Disease Ontology : ¹² A mucopolysaccharidosis III that has material basis in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.

OMIM : ⁵⁶ The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940)

UniProtKB/Swiss-Prot : ⁷³ Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : ⁷⁴ Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

Clinical features from OMIM:

252940

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiid

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiid.